Publications by authors named "Nicolas Derive"

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Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.
Aurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, Elsa Nourisson, Sylvie Friedmann, Nicolas Derive

Hum Mutat· April 2025

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Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.
Antonia M Stehr, Jerica Lenberg, Jennifer Friedman, Dries Dobbelaere, Apolline Imbard, Nicolas Derive

Clin Genet· January 2025

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Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Brian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, Maryse Magen, Nicolas Derive

Eur J Hum Genet· January 2025

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Nicolas Derive

Am J Hum Genet· January 2025

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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New Gene Variants.
Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, Muhammad Mahajnah, Radka Stoeva, Nicolas Derive

Genes (Basel)· November 2024

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Nicolas Derive

Eur J Hum Genet· August 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Nicolas Derive

Eur J Hum Genet· August 2024

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Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Clarisse Billon, Giorgina Barbara Piccoli, Jean-Madeleine de Sainte Agathe, Radka Stoeva, Nicolas Derive

Mol Genet Genomics· April 2024

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First reports of fetal SMARCC1 related hydrocephalus.
Nicolas Rive Le Gouard, Romain Nicolle, Mathilde Lefebvre, Antoinette Gelot, Solveig Heide, Nicolas Derive

Eur J Med Genet· August 2023

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Olaparib in the Setting of Radiotherapy-Associated Sarcoma: What Can Precision Medicine Offer For Rare Cancers?
Diaddin Hamdan, Laetitia Marisa, Camille Tlemsani, Eurydice Angeli, Michael Soussan, Nicolas Derive

JCO Precis Oncol· February 2023

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, Øystein L Holla, Øyvind L Busk, Nicolas Derive

Am J Med Genet A· January 2022

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Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Michael Zech, Kishore R Kumar, Sophie Reining, Janine Reunert, Michel Tchan, Nicolas Derive

Mov Disord· January 2022

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Nicolas Derive

Am J Hum Genet· October 2021

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Nicolas Derive

Hum Mutat· September 2019

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BRCA Share: A Collection of Clinical BRCA Gene Variants.
Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, Nicolas Derive

Hum Mutat· December 2016

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Bub3-BubR1-dependent sequestration of Cdc20Fizzy at DNA breaks facilitates the correct segregation of broken chromosomes.
Nicolas Derive, Cedric Landmann, Emilie Montembault, Marie-Charlotte Claverie, Priscillia Pierre-Elies

J Cell Biol· November 2015

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